Variant report

Variant	nsv970356
Chromosome Location	chr6:153814015-153850061
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:153633466..153634018-chr6:153833051..153833685,2	MCF-7	breast:
2	chr6:153551820..153552804-chr6:153832962..153833839,3	MCF-7	breast:
3	chr6:153323561..153325698-chr6:153833615..153836225,2	K562	blood:

Variant related genes	Relation type
ENSG00000213121	chromatin interactions
ENSG00000112031	chromatin interactions

Extended variants
information (count: 396 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:396 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73787554	chr6:153814140-153814141	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145171386	chr6:153814158-153814159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs373422946	chr6:153814209-153814210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs200443107	chr6:153814218-153814219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541046064	chr6:153814256-153814257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs71567942	chr6:153814283-153814284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562595140	chr6:153814330-153814331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs7758065	chr6:153814347-153814348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143884725	chr6:153814363-153814364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs201419770	chr6:153814364-153814365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs3220923	chr6:153814366-153814367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565016058	chr6:153814374-153814375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567870783	chr6:153814375-153814376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs3035906	chr6:153814396-153814397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543287245	chr6:153814404-153814405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552056179	chr6:153814432-153814433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs34193157	chr6:153814465-153814466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113396768	chr6:153814472-153814473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556932739	chr6:153814517-153814518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs118048358	chr6:153814518-153814519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs75339329	chr6:153814522-153814523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549574658	chr6:153814536-153814537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568038483	chr6:153814558-153814559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570844489	chr6:153814603-153814604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9479617	chr6:153814646-153814647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535569671	chr6:153814666-153814667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547065831	chr6:153814689-153814690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565386764	chr6:153814717-153814718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539052340	chr6:153814726-153814727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9479618	chr6:153814737-153814738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149429849	chr6:153814766-153814767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572727821	chr6:153814768-153814769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576702722	chr6:153814810-153814811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575949402	chr6:153814833-153814834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536823854	chr6:153814845-153814846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185477772	chr6:153814874-153814875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574035417	chr6:153814883-153814884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs813773	chr6:153814892-153814893	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs9479619	chr6:153814897-153814898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143899291	chr6:153814933-153814934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74966875	chr6:153814994-153814995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs578040551	chr6:153815023-153815024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545433457	chr6:153815061-153815062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148601107	chr6:153815107-153815108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs578056471	chr6:153815110-153815111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549292439	chr6:153815125-153815126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6906447	chr6:153815128-153815129	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs142753213	chr6:153815149-153815150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368580833	chr6:153815166-153815167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555261903	chr6:153815182-153815183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Autism	22495311	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	19459884	CNVD
Hearing loss	19459884	CNVD
Microcephaly	19459884	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:153812800-153815000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:153813800-153814600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:153814000-153814400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr6:153814600-153819200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:153819200-153820000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:153833000-153833400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr6:153833000-153833400	Enhancers	Adipose Nuclei	Adipose
8	chr6:153833000-153833600	Enhancers	Dnd41	blood
9	chr6:153842200-153842600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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